Associated Papers
Clinical and genetic analysis of epilepsy in children with SCN8A gene variants.
Li R et al.
Seizure, 2026
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
Chung KM et al.
Epilepsia, 2023
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
33919646 (PubMed )
Supplement: ijms-22-04202-s001.zip › Table_S1.pdf
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Early-onset epileptic encephalopathy with de novo SCN8A mutation.
Xiao Y et al.
Epilepsy Research, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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